Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly | ||
Journal of Pediatric Perspectives | ||
مقاله 11، دوره 5، شماره 1 - شماره پیاپی 37، فروردین 2017، صفحه 4227-4231 اصل مقاله (522.08 K) | ||
شناسه دیجیتال (DOI): 10.22038/ijp.2016.7749 | ||
نویسندگان | ||
Maria Francis Yuvaraj* 1؛ Ponuswamy Kasirajan Sankaran2؛ Gunapriya Raghunath3؛ Zareena Begum Kumaresan1؛ Kumaresan kumaresan M1 | ||
1Instructor, PhD Candidate, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India. | ||
2Associate Professor, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India. | ||
3Professor, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India. | ||
چکیده | ||
The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose. | ||
کلیدواژهها | ||
Cloverleaf skull؛ Dysplasia؛ FGFR3؛ Thanatophoric | ||
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